Search Results - "Folstein, Susan E"
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Allelic Heterogeneity at the Serotonin Transporter Locus ( SLC6A4) Confers Susceptibility to Autism and Rigid-Compulsive Behaviors
Published in American journal of human genetics (01-08-2005)“…Autism is a spectrum of neurodevelopmental disorders with a primarily genetic etiology exhibiting deficits in (1) development of language and (2) social…”
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Overlap between autism and specific language impairment: comparison of Autism Diagnostic Interview and Autism Diagnostic Observation Schedule scores
Published in Autism research (01-10-2008)“…Autism and specific language impairment (SLI) are developmental disorders that, although distinct by definition, have in common some features of both language…”
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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Published in American journal of human genetics (01-05-2014)“…Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an…”
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
Published in Nature genetics (01-07-2017)“…Elise Robinson and colleagues present the polygenic transmission disequilibrium test (pTDT) for evaluating transmission of polygenic risk in family-based study…”
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Comorbid Psychiatric Disorders in Children with Autism: Interview Development and Rates of Disorders
Published in Journal of autism and developmental disorders (01-10-2006)“…The Kiddie Schedule for Affective Disorders and Schizophrenia was modified for use in children and adolescents with autism by developing additional screening…”
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Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates
Published in BMC medical genetics (12-01-2005)“…Autism is a neurobehavioral spectrum of phenotypes characterized by deficits in the development of language and social relationships and patterns of…”
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Functional impact of global rare copy number variation in autism spectrum disorders
Published in Nature (London) (15-07-2010)“…The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the…”
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Individual common variants exert weak effects on the risk for autism spectrum disorders
Published in Human molecular genetics (01-11-2012)“…While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common…”
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Genetics of autism: complex aetiology for a heterogeneous disorder
Published in Nature reviews. Genetics (01-12-2001)“…Since autism was first recognized as a disorder in 1943, speculation about its aetiology has ranged from biological to psychological and back again. After twin…”
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Early loss of neostriatal striosome neurons in Huntington's disease
Published in Journal of neuropathology and experimental neurology (01-01-1995)“…During the first years of symptomatic Huntington's disease (HD), no readily apparent pathology is seen in the neostriatum at autopsy. To investigate the…”
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Linkage Disequilibrium at the Angelman Syndrome Gene UBE3A in Autism Families
Published in Genomics (San Diego, Calif.) (01-09-2001)“…Autistic disorder is a neurodevelopmental disorder with a complex genetic etiology. Observations of maternal duplications affecting chromosome 15q11–q13 in…”
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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
Published in Human genetics (01-04-2012)“…Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive…”
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Evaluation of FOXP2 as an autism susceptibility gene
Published in American journal of medical genetics (08-07-2002)“…A mutation in the gene FOXP2 was recently identified as being responsible for a complicated speech and language phenotype in a single large extended pedigree…”
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Commentary on Kerns and Kendall
Published in Clinical psychology (New York, N.Y.) (01-12-2012)“…The field has been uncertain about how to think about anxiety as it occurs in persons with autism spectrum disorder (ASD). Kerns and Kendall (2012) review the…”
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Language and reading abilities of children with autism spectrum disorders and specific language impairment and their first-degree relatives
Published in Autism research (01-02-2009)“…Autism spectrum disorder (ASD) and specific language impairment (SLI) are developmental disorders exhibiting language deficits, but it is unclear whether they…”
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Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes
Published in BMC medical genetics (05-05-2004)“…A substantial body of research supports a genetic involvement in autism. Furthermore, results from various genomic screens implicate a region on chromosome…”
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"The presentation and classification of anxiety in autism spectrum disorder": Commentary
Published in Clinical psychology (New York, N.Y.) (01-12-2012)“…Comments on an article by Connor M. Kerns and Philip C. Kendall (see record 2013-02147-001). The field has been uncertain about how to think about anxiety as…”
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Evidence supporting WNT2 as an autism susceptibility gene
Published in American journal of medical genetics (08-07-2001)“…We examined WNT2 as a candidate disease gene for autism for the following reasons. First, the WNT family of genes influences the development of numerous organs…”
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Overrepresentation of mood and anxiety disorders in adults with autism and their first-degree relatives: what does it mean?
Published in Autism research (01-06-2008)“…Research indicates that relatives of individuals with autism have higher rates of affective disorders than both the general population and families of children…”
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A genome-wide scan for common alleles affecting risk for autism
Published in Human molecular genetics (15-10-2010)“…Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy…”
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